Gene

A2ML1 - Noonan syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 582

A2ML1 - Noonan syndrome



€ 582

A2ML1 - Noonan syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Noonan syndrome

This product is often ordered in combination with:

This product is also part of the following panels:

  • panel Noonan syndrome / RASopathy
  • WES hereditary cancer (99.5% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610627
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 582
Gene

AADC - Aromatic L-amino acid decarboxylase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency



€ 725

AADC - Aromatic L-amino acid decarboxylase deficiency

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Aromatic L-amino acid decarboxylase deficiency

This product is often ordered in combination with:

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (95.0% **)
  • WES Mendelian inherited disorders (95.0% **)
  • WES metabolic disorders (95.0% **)
  • WES movement disorders (95.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608643
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AAGAB - palmoplantar keratoderma, type punctata ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹



€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • WES Mendelian inherited disorders (99.8% **)
  • WES skin disorders¹ (99.8% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614888
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

AARS2 - Combined oxidative phosphorylation deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

AARS2 - Combined oxidative phosphorylation deficiency



€ 725

AARS2 - Combined oxidative phosphorylation deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Complex (oxphos) deficiency, combined

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)
  • WES mitochondrial disorders (99.8% **)
  • WES movement disorders (99.8% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 612035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

AASS - hyperlysinemia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

AASS - hyperlysinemia



€ 492

AASS - hyperlysinemia

This test is available for the following conditions:

  • Conditions > Neurological > Hyperlysinemia

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.4% **)
  • WES Mendelian inherited disorders (99.4% **)
  • WES metabolic disorders (99.4% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 238700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492
Gene

ABCA1 - HDL deficiency type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ABCA1 - HDL deficiency type 2



€ 725

ABCA1 - HDL deficiency type 2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > HDL deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ABCA1- Tangier disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

ABCA1- Tangier disease



€ 725

ABCA1- Tangier disease

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Tangier disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600046
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

ABCA12 - lamellar, harlequin ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹



€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (98.4% **)
  • WES skin disorders¹ (98.4% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607800
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 715
Gene

ABCA4 - Bull's eye maculopathie

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - Bull's eye maculopathie



€ 706

ABCA4 - Bull's eye maculopathie

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (98.9% **)
  • WES vision disorders (98.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as a seperate test".

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706
Gene

ABCA4 - cone-rod dystrophy type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - cone-rod dystrophy type 3



€ 706

ABCA4 - cone-rod dystrophy type 3

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Cone-rod dystrophy (CRD)

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (98.9% **)
  • WES vision disorders (98.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
Remarks
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."

OMIM: 601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706